S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Journal ArticleDOI
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
Egd Tuddenham,Rainer Schwaab,J. Seehafer,David Stuart Millar,Jane Gitschier,Miyoko Higuchi,Sanjay I. Bidichandani,J. M. Connor,Leon W. Hoyer,Akira Yoshioka,Ian R. Peake,Klaus Olek,Haig H. Kazazian,Jean-Maurice Lavergne,Francesco Giannelli,Stylianos E. Antonarakis,David Neil Cooper +16 more
TL;DR: This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
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beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects
Tu-Chen Cheng,Stuart H. Orkin,Stylianos E. Antonarakis,Michael Potter,Julianne P. Sexton,A.F. Markham,Patricia J. Giardina,Anita Li,Haig H. Kazazian +8 more
TL;DR: Oligonucleotide hybridization demonstrated that the mutation associated with haplotype 4 of Chinese was the same IVS-1 position 5 substitution commonly observed among beta-thalassemia genes in Asian Indians.
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
Michel Guipponi,Grégoire Vuagniaux,Marie Wattenhofer,Kazunori Shibuya,Maria Vazquez,Loretta Dougherty,Nathalie Scamuffa,Elizabeth Guida,Michiyo Okui,Colette Rossier,Manuela Hancock,Karine Buchet,Alexandre Reymond,Edith Hummler,Phillip L. Marzella,Jun Kudoh,Nobuyoshi Shimizu,Hamish S. Scott,Stylianos E. Antonarakis,Bernard C. Rossier +19 more
TL;DR: Data indicate that important signaling pathways in the inner ear are controlled by proteolytic cleavage and suggest: (i) the existence of an auto-catalytic processing by which TMPRSS3 would become active, and (ii) that ENaC could be a substrate of TMPR SS3 in theinner ear.
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Daniel J. Moore,Alexandros Onoufriadis,Amelia Shoemark,Michael A. Simpson,Petra zur Lage,Sandra C. P. De Castro,Lucia Bartoloni,Giuseppe Gallone,Stavroula Petridi,Wesley J. Woollard,Dinu Antony,Miriam Schmidts,Teresa Didonna,Periklis Makrythanasis,Jeremy Bevillard,Nigel P. Mongan,Jana Djakow,Gerard Pals,Jane S. Lucas,June K. Marthin,Kim G. Nielsen,Federico Santoni,Michel Guipponi,Claire Hogg,Stylianos E. Antonarakis,Richard D. Emes,Eddie M. K. Chung,Nicholas D. E. Greene,Jean-Louis Blouin,Andrew P. Jarman,Hannah M. Mitchison +30 more
TL;DR: Using a fly model of PCD, it is concluded that ZMYND10 is a cytoplasmic protein required for IDA and ODA assembly and that its variants cause ciliary dysmotility and PCD with laterality defects.
Journal Article
Protocols to establish genotype-phenotype correlations in Down syndrome.
Charles J. Epstein,Julie R. Korenberg,Göran Annerén,Stylianos E. Antonarakis,Ségolène Aymé,Eric Courchesne,L B Epstein,A Fowler,Yoram Groner,J L Huret +9 more
TL;DR: Charles J. Epstein,* Julie R. Epstein*, Anne Fowler, TT Yoram Groner,$ Jean L. Korenberg,$ Goran Anneren,§ Stylianos E. Antonarakis,II Segolene Ayme, # Eric Courchesne, * * Lois B. Priest, ### Siegfried M. Pueschel,**** Stanley 1.